Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Dr Bhanu K Bhakhri

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Super Speciality Paediatric Hospital and Post Graduate Teaching Institute, Noida
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On Sep 2018




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Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
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Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




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"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



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Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018




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Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




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MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




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Best regards,
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Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




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Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
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Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


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Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
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It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011

Important Notice

Case report
Year : 2010 | Month : August | Volume : 4 | Issue : 4 | Page : 2899 - 2902

Gorlin – Goltz syndrome-a rare presentation

BHAT K R, VASU C K*, RATHNAKAR U P**, RAVICHANDRA G***, ACHARYA D****

*Consultant radiologist, Balmatta Scan Center, Mangalore **Professor, Yenepoya Medical College, Mangalore, Department of Radiology. ***Kasturba Medical College, Mangalore, Department of pharmacology ****Yenepoya Medical College, Mangalore, Department of Radiology. ******Devadas Acharya, Yenepoya Medical College, Mangalore, Department of Radiology.

Correspondence Address :
Dr. U.P. Rathnakar, Manipal University, Kasturba Medical College, Mangalore, Department of pharmacology. L.H.H.Road, Karnataka, 575001.
Phone: +919448983292, E-Mail: ratnakar.uncle@gmail.com

Abstract

The Golin-Goltz syndrome is a rare, multisystemic and autosomal dominant disease. We are describing here, a case with an unusual presentation of purulent discharge into the mouth from infected cysts in the jaw, in a 22 year old male patient. The case was associated with some of the classical radiological features described in the literature for this syndrome

Keywords

Golin-Goltz, Multiple cysts, major and minor criteria.

How to cite this article :

BHAT K R, VASU C K, RATHNAKAR U P, RAVICHANDRA G, ACHARYA D. GORLIN – GOLTZ SYNDROME-A RARE PRESENTATION. Journal of Clinical and Diagnostic Research [serial online] 2010 August [cited: 2019 Oct 21 ]; 4:2899-2902. Available from
http://jcdr.net/back_issues.asp?issn=0973-709x&year=2010&month=August&volume=4&issue=4&page=2899-2902&id=835

Introduction
The Gorlin-Goltz syndrome is an autosomal dominant, rare, hereditary disease which involves multiple body systems (1). It is also known by many names like basal cell nevus syndrome, nevoid basal cell carcinoma syndrome [NBCCS], even by a complicated name of "multiple basal epithelioma, jaw cysts and bifid rib syndrome" (2),(3). This syndrome is caused by mutations in the tumour suppressor gene called PTCH (Patched) gene found on the chromosome arm 9q (4). However, there exists a highly complex variability of symptoms in individuals showing comparable molecular alterations. This variability of phenotype is due to the interactions of genetic and environmental factors. (5),(6). Its prevalence varies according to the population studied and the generally accepted prevalence is 1 in 60.000 inhabitants (7).

Though the identification of the mutation in the PTCH-1 gene is diagnostic of the disease, it is not done regularly. The Gorlin – Goltz syndrome is still diagnosed by a constellation of clinical and radiological signs and symptoms which can be grouped into major and minor criteria. The presence of two major criteria or one major and two minor criteria is considered to be diagnostic of the Gorlin - Goltz syndrome. The most important major criteria include basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits,bilamellar calcifications of falx cerebri, bifid, fused or markedly splayed ribs and first-degree relatives with Golin-Goltz syndrome (1). Along with these major features, more than 100 minor criteria have been described. The list includes macrocephaly, congenital malformations (eg, cleft lip or palate, frontal bossing, coarse face, hypertelorism), other skeletal abnormalities (eg, Sprengel deformity, marked pectus deformity, or syndactyly of the digits), radiological abnormalities (eg, bridging of the sella turcica), vertebral anomalies (eg, hemivertebrae, fusion or elongation of the vertebral bodies), modeling defects of the hands and feet or flame-shaped lucencies of the hands or feet, ovarian fibroma, medulloblastoma, hypertelorism and mandibular prognathia (1).

Case Report

History and Clinical Presentation
A 22 years old male patient presented with the complaint of purulent discharge in the mouth without any history of trauma, tooth extraction, sinusitis, fever or pain. On examination, multiple hard swellings were felt over both the jaws. The swellings were slightly tender on the right mandible. The purulent discharge was seen oozing into the buccal cavity from the mandible on the left side. Two small nevi, one over the interscapular region and the other on the right side of the face, were seen. Other significant findings on examination were bilateral syndactyly of the second and third toes, syndactyly of the fourth and fifth phalanges and local gigantism of the second and third fingers of the left hand. Mild hypertelorism and prognathism were seen.

Radiographic Investigations
Orthopantomography [OPG] showed multiple, well defined, mildly expansile, odontogenic cystic lesions with well defined sclerotic margins, involving the mandible and maxillary bone symmetrically (Table/Fig 1). The cysts in the left mandible and the right maxilla were associated with respective uninterrupted third molars (Table/Fig 1). The right mandibular cyst was in close vicinity of the roots of the second and third molars, but without encompassing it (Table/Fig 1) . The left maxillary cyst was not associated with any tooth or tooth primordium (Table/Fig 1). A limited skeletal survey revealed:
1. Chest X-Ray [PA]- Spina-bifida occulta of C7 and T1, fusion and forking of the third and fourth ribs, anterior forking of the seventh rib on the right side and forking of the fifth rib on the left side (Table/Fig 2) .
2. X-Ray of feet [AP] – Proximal soft tissue syndactyly of the right second and third toes, the bone island over the proximal phalanx of the right big toe. (Table/Fig 3).
3. X-Ray of hands [AP] – Local gigantism of the second and third digits with flexion deformity at the proximal metacarpo-phalangeal joints in the left hand. Soft tissue syndactyly of the fourth and fifth fingers with fusion of the terminal phalanges (Table/Fig 4). Alignment deformity of the distal interphalangeal joints of the second and third fingers was seen on the right side.
4. Computed tomography (CT) scan of the jaws D demonstrated the cortical break in the infected left mandibular cyst and established the source of purulent discharge in the mouth, which otherwise was not established by OPG(Table/Fig 5).
5. CT scan also showed the all important bilamellar calcification of the falx cerebri (Table/Fig 6).

Discussion

Diagnosis was made in the present patient, based on the presence of the above criteria. Odontogenic cysts, calcification of the falx cerebri and forking of the ribs were the major features identified and the minor features present were hypertelorism, prognathism of the jaw and syndactyly of the toes and digits. The first degree relatives could not be examined. CT scan of the jaws established the cortical break in the dentigerous cyst as the source of purulent discharge into the mouth.
In Gorlin-Goltz syndromes, early diagnosis is very important because of serious complications like the malignancy of skin and brain and to give genetic advice. First degree relatives should be examined in order to make early diagnosis. Along with skeletal survey, pelvic ultrasonogrphies should be done in women (1). All patients, especially those with odontogenic keratocysts must be examined every year (3). These patients are susceptible to the development of basocellular carcinomas on exposure to UV light and other forms of ionizing radiations (8). Hence, these patients must be protected from sunlight and exposure to diagnostic ionizing radiations should be limited to a minimum.

In conclusion, it is emphasized that all patients with suspicious symptoms must be investigated in detail to make an early diagnosis of the disease, in view of the severity of the complications. The patients should be encouraged to get their first degree relatives medically examined, as the Gorlin-Goltz syndrome is an autosomal dominant disease. All patients with this syndrome should undergo yearly check-ups.

Key Message

: A simple case of purulent discharge in the mouth may turn out to be a rare genetic syndrome.

References

1.
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. (1997). Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997; 69 (3): 299–308.
2.
Aitziber Ortega, García de Amezaga, Olatz García Arregui, Sergio Zepeda Nuño, Amelia Acha Sagredo, José M. Aguirre Urizar. Gorlin-Goltz syndrome:Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal. 2008 Jun; 13(6):E338-43.
3.
Reyes Macias JF, Bagán Sebastián JV. Síndrome de Gorlin-Goltz Revisión de la literatura y reporte de un caso. Rev Europ Odonto-Estomatol. 2002 Marzo; 14(2):105-12.
4.
Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science.1996 June; 272 (5268): 1668–71
5.
Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the patched protein, and no genotype-phenotype correlations are evident. Am J Hum Genet. 1997 Jan; 60(1):21–6.
6.
Marsh A, Wicking C, Wainwright B, Chenevix-Trench G. DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat. 2005 Sep; 26 (3):283.
7.
R Yang X, Pfeiffer RM, Goldstein AM. Influence of glutathione-Stransferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphims on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet. 2006 Apr; 43 (4):e16.
8.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. 2004 Mar; 33(2):117-24.

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